Propionic acidaemia presenting with pancytopaenia in infancy.
A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the activity of propionyl-CoA carboxylase in cultured fibroblasts was defective (McKusick 23200). Abnormal amounts of glycine, 3-hydroxypropionate, methylcitrate, tiglyglycine, propionylglycine, 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, 3-oxovalerate and 3-hydroxyvalerate were found in body fluids. It appears that the organic acidaemia leads to an inhibition in the maturation of cells in the bone marrow.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy; D000596:Amino Acids / Q000378:metabolism; D002262:Carboxy-Lyases / Q000172:deficiency; D002478:Cells, Cultured; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D019411:Clinical Laboratory Techniques; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase; D010198:Pancytopenia / Q000175:diagnosis / Q000209:etiology*; D011247:Pregnancy; D011422:Propionates / Q000097:blood* / Q000172:deficiency
D000596:Amino Acids; D011422:Propionates; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase